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    KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 [ Homo sapiens ]

    Gene ID: 3805, updated on 11-May-2012
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    Summary

    Official Symbol
    KIR2DL4provided by HGNC
    Official Full Name
    killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4provided by HGNC
    Primary source
    HGNC:6332
    Locus tag
    XXbac-BCX195L8.3
    See related
    Ensembl:ENSG00000189013; HPRD:16082; MIM:604945; Vega:OTTHUMG00000065880
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    G9P; CD158D; KIR103; KIR103AS
    Summary
    Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    19q13.4
    Sequence :
    Chromosome: 19; NC_000019.9 (55315067..55325972)
    See KIR2DL4 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 Neighboring gene killer cell immunoglobulin-like receptor, three domains, pseudogene 1 Neighboring gene killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 Neighboring gene killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Lack of KIR2DL4 gene in a fertile Caucasian woman. Nowak I, et al. Tissue Antigens, 2011 Aug. PMID 21623736.
    2. The characteristics of allelic polymorphism in killer-immunoglobulin-like receptor framework genes in African Americans. Hou L, et al. Immunogenetics, 2011 Sep. PMID 21607693.
    3. Ubiquitylation of an internalized killer cell Ig-like receptor by Triad3A disrupts sustained NF-κB signaling. Miah SM, et al. J Immunol, 2011 Mar 1. PMID 21270397.
    4. [Applications of monitoring human leukocyte antigen G and its inhibitory receptors in post-renal transplantation]. XIAO L, et al. Zhonghua Yi Xue Za Zhi, 2010 Sep 28. PMID 21092455.
    5. Association of KIR2DS1 and KIR2DS3 with fatal outcome in Ebola virus infection. Wauquier N, et al. Immunogenetics, 2010 Dec. PMID 20878400.

    See all (112) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. KIR2DL4 gene may not be essential for fertility, as shown in a fertile Caucasian woman missing KIR2DL4 [case report]
      Title: Lack of KIR2DL4 gene in a fertile Caucasian woman.
    2. Decreased KIR2DL4 expression in placenta may participate in the pathogenesis of pre-eclampsia.
      Title: [Correlation between killer cell immunoglobulin-like receptors genes and pre-eclampsia].
    3. The frequencies of alleles of killer cell immunoglobulin-like receptor genes, KIR3DL3 and KIR3DL2, and the carrier frequency of KIR2DL4 alleles have been determined from a population of African Americans by DNA sequencing of the coding regions.
      Title: The characteristics of allelic polymorphism in killer-immunoglobulin-like receptor framework genes in African Americans.
    4. The expression of KIR2DL4 on NK cells in acute rejection group was statistically lower than that in stable kidney function group after renal transplantation.
      Title: [Applications of monitoring human leukocyte antigen G and its inhibitory receptors in post-renal transplantation].
    5. By promoting polyubiquitylation and degradation, E3 ubiquitin ligase Triad3A is identified as an interaction partner for the KIR2DL4 cytoplasmic domain.
      Title: Ubiquitylation of an internalized killer cell Ig-like receptor by Triad3A disrupts sustained NF-κB signaling.
    6. The sequential requirement for DNA-dependent protein kinase, Akt, and NF-kappaB in signaling by CD158d delineates a previously uncharacterized endosomal signaling pathway for a proinflammatory response in natural killer cells.
      Title: DNA-PKcs controls an endosomal signaling pathway for a proinflammatory response by natural killer cells.
    7. KIR2DL4 itself is not associated with preeclampsia, but it may modulate the effect of HLA-G*0106 on risk for preeclampsia.
      Title: Possible gene-gene interaction of KIR2DL4 with its cognate ligand HLA-G in modulating risk for preeclampsia.
    8. Expression patterns of KIR2DL4 were tightly linked with 9 and 10 poly-adenine polymorphism in exon 7.
      Title: High levels of molecular polymorphism at the KIR2DL4 locus in French and Congolese populations: impact for anthropology and clinical studies.
    9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Effect of killer immunoglobulin-like receptors in the response to combined treatment in patients with chronic hepatitis C virus infection.
    10. Stimulatory molecule KIR2DL4 triggers interferon-gamma release by lupus T cells, and production is proportional to disease activity.
      Title: Stimulatory and inhibitory killer Ig-like receptor molecules are expressed and functional on lupus T cells.
    Submit: New GeneRIF Correction See all (42)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q99706 P30273 FCER1G    HPRD  PubMed  
    Q99706 P17693 HLA-G    HPRD  PubMed  
    BioGRID:110006 BioGRID:109380 HLA-G    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110006 BioGRID:119981 RNF216    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:110006 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    cellular defense response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    regulation of immune response TAS
    Traceable Author Statement
    more info
    		  
    signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    killer cell immunoglobulin-like receptor 2DL4
    Names
    killer cell immunoglobulin-like receptor 2DL4
    KIR-103AS
    NK cell receptor
    killer Ig receptor
    CD158 antigen-like family member D
    MHC class I NK cell receptor KIR103AS
    killer cell inhibitory receptor 103AS
    natural killer cell inhibitory receptor
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_005994.1 Reference

      Range
      124068..134982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    2. NG_005990.1 Reference

      Range
      79584..90489
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080770.1 → NP_001074239.1  killer cell immunoglobulin-like receptor 2DL4 isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon in the coding region, compared to variant 1. It encodes isoform c, which is shorter than isoform 1.
      Source sequence(s)
      BC028137, BC041611
      Consensus CDS
      CCDS42619.1
      UniProtKB/Swiss-Prot
      Q99706
      Related
      ENSP00000339634, OTTHUMP00000068611, ENST00000345540, OTTHUMT00000141138
      Conserved Domains (1) summary
      cl11960
      Location:30 – 119
      Blast Score: 288
      Ig; Immunoglobulin domain

    2. NM_001080772.1 → NP_001074241.1  killer cell immunoglobulin-like receptor 2DL4 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is one nt shorter than variant 1. It encodes isoform b, which is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      BC028137, BC041611
      Consensus CDS
      CCDS42620.1
      Related
      ENSP00000351988, OTTHUMP00000068610, ENST00000359085, OTTHUMT00000141136
      Conserved Domains (1) summary
      cl11960
      Location:30 – 119
      Blast Score: 285
      Ig; Immunoglobulin domain

    3. NM_002255.5 → NP_002246.5  killer cell immunoglobulin-like receptor 2DL4 isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC028137, BC041611
      UniProtKB/Swiss-Prot
      Q99706
      Related
      ENSP00000379584, OTTHUMP00000068616, ENST00000396289, OTTHUMT00000141143
      Conserved Domains (1) summary
      cl11960
      Location:30 – 119
      Blast Score: 289
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      55315067..55325972
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 PATCHES

    Genomic

    1. NW_003571055.1 Reference GRCh37.p5 PATCHES

      Range
      421467..432381
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 PATCHES

    Genomic

    1. NW_003571060.1 Reference GRCh37.p5 PATCHES

      Range
      707934..718882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      51637714..51648659
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC011501.8 (54779..65684) None
    genomic AF003123.1 AAB61926.1
    genomic AF110035.1 AAD24763.1
    genomic AL133414.4 CAC40705.1
      CAC40706.1
      CAC40707.1
      CAC40708.1
      CAC40709.1
      CAC40710.1
      CAC40711.1
    genomic AM404442.1 CAL49524.1
    genomic AY320039.1 (126159..137073) None
    genomic AY727757.1 AAW32088.1
    genomic AY727758.1 AAW32089.1
    genomic AY727759.1 AAW32090.1
    genomic AY727760.1 AAW32091.1
    genomic AY727761.1 AAW32092.1
    genomic AY727762.1 AAW32093.1
    genomic AY727763.1 AAW32094.1
    genomic AY727764.1 AAW32095.1
    genomic CH471135.1 EAW72279.1
      EAW72280.1
      EAW72281.1
      EAW72282.1
      EAW72283.1
    genomic CU151839.1 CAQ09198.1
    genomic CU459006.1 CAQ10169.1
    genomic DQ371563.1 ABD38576.1
    genomic DQ371564.1 ABD38576.1
    genomic DQ371565.1 ABD38576.1
    genomic DQ371566.1 ABD38576.1
    genomic DQ371567.1 ABD38576.1
    genomic DQ371568.1 ABD38576.1
    genomic DQ371569.1 ABD38576.1
    genomic GU182341.1 ADJ94534.1
    genomic GU182343.1 ADJ94550.1
    genomic GU182346.1 ADJ94574.1
    genomic HM997084.1 ADY90046.1
    mRNA AF002256.1 AAB61282.1
    mRNA AF002979.1 AAB71387.1
    mRNA AF002980.1 AAB71388.1
    mRNA AF002981.1 AAB71389.1
    mRNA AF002982.1 AAB71390.1
    mRNA AF034771.1 AAB95164.1
    mRNA AF034772.1 AAB95165.1
    mRNA AF034773.1 AAB95166.1
    mRNA AF276292.1 AAG44820.1
    mRNA AF285436.1 AAG34927.1
    mRNA AK309531.1 None
    mRNA AK310066.1 None
    mRNA AY052496.1 AAL14211.1
    mRNA AY052497.1 AAL14212.1
    mRNA AY223512.2 AAO46034.2
    mRNA AY223513.1 AAO46035.1
    mRNA AY223514.1 AAO46036.1
    mRNA AY223515.1 AAO46037.1
    mRNA AY250088.1 AAP02958.1
    mRNA AY359817.1 AAQ83723.1
    mRNA AY601812.1 AAT11793.1
    mRNA AY789058.1 AAX23103.1
    mRNA AY789059.1 AAX23104.1
    mRNA AY789060.1 AAX23105.1
    mRNA AY789061.1 AAX23106.1
    mRNA AY789062.1 AAX23107.1
    mRNA BC028137.1 None
    mRNA BC041611.1 AAH41611.1
    mRNA BM918119.1 None
    mRNA DQ266438.1 ABB73033.1
    mRNA DQ272466.1 ABB84493.1
    mRNA EU194340.1 ABW73959.1
    mRNA EU194341.1 ABW73960.1
    mRNA EU194342.1 ABW73961.1
    mRNA U71199.1 AAB49756.1
    mRNA U73394.1 AAC51146.1
    mRNA X97229.1 CAA65868.1
    mRNA X99479.1 CAA67842.1
    mRNA X99480.1 CAA67843.1
    mRNA X99481.1 CAA67844.1
    mRNA Y13054.1 CAA73497.1
    other-genetic HQ448395.1 ADQ32875.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00547 GenPept UniProtKB/TrEMBL:O00547
    O43803 GenPept UniProtKB/TrEMBL:O43803
    Q32WD9 GenPept UniProtKB/TrEMBL:Q32WD9
    Q32WE0 GenPept UniProtKB/TrEMBL:Q32WE0
    Q32WE1 GenPept UniProtKB/TrEMBL:Q32WE1
    Q32WE2 GenPept UniProtKB/TrEMBL:Q32WE2
    Q5IH82 GenPept UniProtKB/TrEMBL:Q5IH82
    Q5IH87 GenPept UniProtKB/TrEMBL:Q5IH87
    Q5IHW5 GenPept UniProtKB/TrEMBL:Q5IHW5
    Q5IHW6 GenPept UniProtKB/TrEMBL:Q5IHW6
    Q5IHW9 GenPept UniProtKB/TrEMBL:Q5IHW9
    Q6UV36 GenPept UniProtKB/TrEMBL:Q6UV36
    Q86U48 GenPept UniProtKB/TrEMBL:Q86U48
    Q86VF1 GenPept UniProtKB/TrEMBL:Q86VF1
    Q86WL6 GenPept UniProtKB/TrEMBL:Q86WL6
    Q86WL7 GenPept UniProtKB/TrEMBL:Q86WL7
    Q8N736 GenPept UniProtKB/TrEMBL:Q8N736
    Q8N737 GenPept UniProtKB/TrEMBL:Q8N737
    Q8N738 GenPept UniProtKB/TrEMBL:Q8N738
    Q8N739 GenPept UniProtKB/TrEMBL:Q8N739
    Q8N740 GenPept UniProtKB/TrEMBL:Q8N740
    Q8N741 GenPept UniProtKB/TrEMBL:Q8N741
    Q8NHK1 GenPept UniProtKB/TrEMBL:Q8NHK1
    Q96L47 GenPept UniProtKB/TrEMBL:Q96L47
    Q96L48 GenPept UniProtKB/TrEMBL:Q96L48
    Q96L49 GenPept UniProtKB/TrEMBL:Q96L49
    Q99706.3 GenPept UniProtKB/Swiss-Prot:Q99706
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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